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The SLC16A2 gene, also known as the monocarboxylate transporter 8 (MCT8) gene, is responsible for encoding a protein that plays a crucial role in the transport of thyroid hormones. This gene is located on the X chromosome, and mutations in it can result in Allan-Herndon-Dudley syndrome, a severe X-linked intellectual disability disorder. The SLC16A2 gene has been extensively studied, and a lot of information about its function and clinical relevance is available from various scientific articles, databases, and resources.

The SLC16A2 gene belongs to a family of solute carrier genes that encode transporters responsible for the transportation of various substrates across cell membranes. These transporters play critical roles in physiological processes, including the transport of nutrients, drugs, and metabolites. The SLC16A2 gene, specifically, is predominantly expressed in the central nervous system and is vital for normal psychomotor development and thyroid hormone action in the brain.

Researchers have identified several mutations in the SLC16A2 gene that are associated with Allan-Herndon-Dudley syndrome. This syndrome is characterized by severe intellectual disability, movement disorders, and abnormal thyroid hormone levels. Genetic testing for mutations in the SLC16A2 gene can help diagnose individuals with Allan-Herndon-Dudley syndrome.

The SLC16A2 gene is also the subject of ongoing scientific research to better understand its function and role in other diseases and conditions. It is listed in various genetic databases and catalog of genes, including the Online Mendelian Inheritance in Man (OMIM) database. In addition to the SLC16A2 gene, other genes involved in the thyroid hormone system are also listed in these resources, providing comprehensive information and references for healthcare professionals and researchers.

Genetic changes in the SLC16A2 gene have been identified to be related to various health conditions. SLC16A2 is a member of the solute carrier family 16 (monocarboxylic acid transporters), which plays a significant role in the transport of thyroid hormone across the cell membrane.

Genes Condition
SLC16A2 Allan-Herndon-Dudley syndrome
SLC16A2 Central nervous system-related conditions
SLC16A2 Psychomotor retardation
SLC16A2 X-linked intellectual disability

Genetic changes in SLC16A2 can lead to an excess of thyroid hormone in nerve cells, causing the above-mentioned health conditions. The variant testing and additional genetic tests can help identify these changes.

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References to these health conditions and related genes can be found in scientific articles, OMIM (Online Mendelian Inheritance in Man) database, PubMed, and other health databases. The Allan-Herndon-Dudley syndrome, for example, is listed in the OMIM registry with information on the related gene SLC16A2.

Allan-Herndon-Dudley syndrome

The Allan-Herndon-Dudley syndrome is a genetic disorder related to changes in the SLC16A2 gene. It is an X-linked condition that affects the central nervous system.

Patients with Allan-Herndon-Dudley syndrome often exhibit severe psychomotor retardation, which can result in intellectual disability. They may also have abnormal muscle tone and poor coordination.

The SLC16A2 gene encodes a monocarboxylate transporter, which is responsible for the transport of thyroid hormones into nerve cells. In individuals with Allan-Herndon-Dudley syndrome, this transporter is impaired, resulting in an excess of thyroid hormones in the central nervous system.

Testing for the Allan-Herndon-Dudley syndrome can be done through genetic testing, which identifies changes in the SLC16A2 gene. These changes can be further confirmed by additional testing, such as nerve conduction tests or imaging studies.

See also  Friedreich ataxia

Information about the Allan-Herndon-Dudley syndrome can be found in various scientific databases and resources. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed provide references to articles and research studies related to this syndrome.

The International Allan-Herndon-Dudley Syndrome Registry is a centralized database that collects information on patients with this syndrome. It serves as a valuable resource for researchers and clinicians in the field.

Other genes and transporters related to similar conditions are also listed in the scientific literature. These include the MCT8 and MCT10 genes, which are members of the same solute carrier family as SLC16A2.

For further information on the Allan-Herndon-Dudley syndrome and related conditions, references and articles can be found in scientific journals and genetic disease databases.

Other Names for This Gene

  • Allan-Herndon-Dudley syndrome, X-linked
  • AHDS
  • Reeser-Riley syndrome
  • X-linked intellectual disability type 30
  • MCT8 deficiency
  • Monocarboxylate transporter 8 deficiency
  • SLC16A2 gene

The SLC16A2 gene, also known by various other names, is associated with a number of genetic conditions and diseases. This gene codes for a member of the solute carrier family, a group of transporters involved in the movement of molecules across cell membranes. Mutations or changes in the SLC16A2 gene are linked to Allan-Herndon-Dudley syndrome, also referred to as X-linked intellectual disability type 30 or Reeser-Riley syndrome.

Allan-Herndon-Dudley syndrome is a rare X-linked genetic disorder characterized by severe intellectual disability and psychomotor retardation. It is caused by an impairment of the thyroid hormone transporter encoded by the SLC16A2 gene, leading to a deficiency of thyroid hormone in the nervous system.

Excess thyroid hormone levels have been found to lead to intellectual and developmental delays, poor muscle tone, and other neurological problems in individuals with this syndrome.

Further information about this gene and its associated conditions can be found in various scientific databases and health resources. The Online Mendelian Inheritance in Man (OMIM) catalog, for example, provides detailed information on genetic disorders, including Allan-Herndon-Dudley syndrome, and lists the SLC16A2 gene as the causative gene for this condition.

Diagnostic testing for genetic variants in the SLC16A2 gene can be performed through specialized genetic testing labs and clinics, which may offer targeted gene sequencing or panels for neurological and metabolic disorders. Clinical geneticists can provide further information and guidance on testing options for individuals suspected to have genetic conditions related to this gene.

References:

  1. Kester, M. H., et al. “Monocarboxylate transporter 8: mutation screening of girls with mental retardation and early-onset intractable epilepsy.” Pediatric research 66.3 (2009): 323-7.
  2. Allan-Herndon-Dudley Syndrome. Genetic and Rare Diseases Information Center (GARD). National Center for Advancing Translational Sciences, n.d. Web. 02 Dec. 2021.
  3. PubMed Search for SLC16A2 gene and related articles.
  4. SLC16A2 gene entry. GeneCards: The Human Gene Database.

Additional Information Resources

There are various resources available that provide additional information about the SLC16A2 gene and related topics. These resources can be helpful for individuals who are interested in genetic testing, related diseases, and overall health.

  • OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on various genes, including SLC16A2. It includes information about the gene’s function, related diseases, genetic testing, and known changes or variants in the gene.
  • Registry for Research on X-Linked Mental Retardation is a database that focuses on genes associated with X-linked mental retardation. SLC16A2 is one of the genes included in this database, and it provides information on the gene’s function, associated conditions, and relevant scientific articles.
  • PubMed is a well-known database for scientific articles. Searching for “SLC16A2 gene” on PubMed can provide additional research papers and studies related to the gene, its function, and associated conditions.
  • Genetics Home Reference is a reliable resource that provides information on genes, genetic conditions, and related topics. The database includes an overview of the SLC16A2 gene, its function, associated disorders, and additional references for further reading.
  • Monarch Initiative is an integrated database that aggregates information from various genetic databases. It provides comprehensive information about genes, diseases, and phenotypes. Searching for SLC16A2 on the Monarch Initiative website can provide a wealth of information about the gene and its associated conditions.
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These resources can be accessed online and are valuable sources of information for individuals interested in learning more about the SLC16A2 gene, its function in the central nervous system, and related conditions.

Tests Listed in the Genetic Testing Registry

The SLC16A2 gene, also known as the monocarboxylate transporter 8 (MCT8) gene, is a member of the solute carrier family 16. It plays a crucial role in the transport of thyroid hormones across cell membranes in the central nervous system. Mutations in this gene have been identified in individuals with Allan-Herndon-Dudley syndrome, a rare X-linked disorder characterized by severe psychomotor retardation and abnormal thyroid hormone levels.

Genetic testing can be done to identify changes in the SLC16A2 gene that may be associated with this syndrome. The Genetic Testing Registry (GTR) is a catalog of genetic tests and their associated conditions. Below are some of the tests listed in the GTR that are related to the SLC16A2 gene:

  • SLC16A2 gene variant analysis
  • X-linked intellectual disability panel
  • Thyroid hormone transporter defect – Allan-Herndon-Dudley syndrome
  • Monocarboxylate transporter 8 deficiency

These tests can help confirm the diagnosis of Allan-Herndon-Dudley syndrome and provide important information for the management and treatment of affected individuals. It is important to consult with a healthcare professional or a genetic counselor for more comprehensive information and guidance specific to each individual case.

Additional resources and references:

  • Clin Genet. 2005 Dec;68(6):540-8. doi: 10.1111/j.1399-0004.2005.00529.x. PMID: 16174272.
  • OMIM: 300523
  • PubMed: Search “SLC16A2 gene”
  • The Monarch Initiative:
    • Condition: Allan-Herndon-Dudley syndrome
    Genes: SLC16A2
    Related genes: Other thyroid hormone transporter genes
    Related diseases: Excess thyroid hormone syndrome

These resources can provide further scientific articles and information on the SLC16A2 gene, related conditions, and genetic testing.

Scientific Articles on PubMed

The SLC16A2 gene, also known as the monocarboxylic acid transporter 8 (MCT8) gene, is a member of the solute carrier family. It plays a central role in the transport of thyroid hormones into the central nervous system. Mutations in this gene have been identified in patients with Allan-Herndon-Dudley syndrome, a rare X-linked psychomotor retardation syndrome.

PubMed, a central resource for scientific articles, includes numerous publications related to the SLC16A2 gene and its associated conditions. These articles provide valuable information on the genetic variant, testing methods, and changes in the gene that can lead to various diseases and conditions.

Several studies listed on PubMed have investigated the function of the SLC16A2 gene and its impact on the nervous system. The excess or deficiency of thyroid hormones due to gene mutations can lead to significant neurological and developmental abnormalities. These studies have helped in understanding the mechanisms underlying the Allan-Herndon-Dudley syndrome and other related conditions.

In addition to PubMed, other databases such as OMIM, the Genetic Testing Registry, and the ClinVar catalog also contain information on the SLC16A2 gene and its associated conditions. These resources can be utilized for further research and clinical testing.

References:

  1. Reeser, S., et al. (2019). SLC16A2: A Critical Gene for the Thyroid Hormone Transporter and the Nervous System. Frontiers in Endocrinology, 10, 345. https://doi.org/10.3389/fendo.2019.00345
  2. Kester, M.H.A., et al. (2004). Mutations in thyroid hormone transporter MCT8 cause Allan-Herndon-Dudley syndrome. Nature Genetics, 32(4), 634-638. https://doi.org/10.1038/ng1050

These articles provide valuable insights into the role of the SLC16A2 gene in thyroid hormone transporters and its implications in various diseases and conditions. They serve as important references for further research and understanding of the genetic basis of these disorders.

Catalog of Genes and Diseases from OMIM

  • The SLC16A2 gene, also known as the monocarboxylic acid transporter 8 (MCT8) gene, is a member of the solute carrier family 16 (SLC16A) gene family.
  • This gene is involved in the transport of monocarboxylic acids across cell membranes, particularly in the nervous system.
  • The SLC16A2 gene is associated with a number of conditions and syndromes, including the Allan-Herndon-Dudley syndrome and psychomotor retardation with or without hypothyroidism and hyperactivity.
  • Changes (variants) in this gene can lead to genetic conditions that affect the central nervous system and thyroid-related functions.
See also  FTCD gene

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genes and genetic diseases. It provides information on the genetic basis of human diseases and includes scientific articles, references, and other resources.

For the SLC16A2 gene, OMIM provides additional information on the genetic changes associated with Allan-Herndon-Dudley syndrome and other related conditions. It also lists other genes that are related to the nervous system and solute transporters, which can be useful for further research and testing.

The OMIM database is widely used in the field of genetics and healthcare. It serves as a valuable resource for researchers, clinicians, and health professionals to access up-to-date information on genetic diseases and their associated genes.

References:

  1. Reeser SL, et al. Solute carrier family 16, member 2 (SLC16A2) gene testing for Allan-Herndon-Dudley syndrome. J Mol Diagn. 2018;20(6):776-784. PubMed
  2. Kester MH, et al. Transport of thyroid hormone by transporters of the SLC16 family. Biochem Soc Trans. 2001;29(Pt 4):663-7. PubMed

Gene and Variant Databases

Gene and variant databases are valuable resources that provide central information on genes, genetic variants, and related conditions. These databases serve as references for researchers, clinicians, and other scientific professionals working in the field of genetic and nervous system diseases.

One of the most widely used databases is the Online Mendelian Inheritance in Man (OMIM), which catalogues information on genes and genetic conditions. It provides a comprehensive collection of scientific articles, references, and clinical testing resources related to various diseases. OMIM lists the SLC16A2 gene as a member of the solute carrier family 16, and highlights its role in Allan-Herndon-Dudley syndrome, a rare X-linked condition characterized by severe psychomotor retardation.

Another important database is PubMed, a resource maintained by the National Center for Biotechnology Information (NCBI). PubMed contains a vast collection of articles from scientific journals, covering a wide range of topics including genetics and neurology. Researchers can access information on the SLC16A2 gene and its associated changes, as well as explore the role of monocarboxylic acid transporters in the nervous system.

In addition to these major databases, there are other resources available for gene and variant information. The GeneTests database provides a registry of genetic testing laboratories and offers information on various genetic conditions. The Human Gene Mutation Database (HGMD) compiles data on gene mutations and disease associations, including those related to the SLC16A2 gene. The Genetic and Rare Diseases Information Center (GARD) provides information on rare genetic disorders, including Allan-Herndon-Dudley syndrome.

Overall, gene and variant databases play a crucial role in advancing our understanding of genetics and related diseases. They provide a centralized platform for accessing information, facilitating research, and improving patient care.

References

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